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rs387907262

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907262(G;T)
Make rs387907262(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position66638281
GeneKCTD7
is asnp
is mentioned by
dbSNPrs387907262
dbSNP (classic)rs387907262
ClinGenrs387907262
ebirs387907262
HLIrs387907262
Exacrs387907262
Gnomadrs387907262
Varsomers387907262
LitVarrs387907262
Maprs387907262
PheGenIrs387907262
Biobankrs387907262
1000 genomesrs387907262
hgdprs387907262
ensemblrs387907262
geneviewrs387907262
scholarrs387907262
googlers387907262
pharmgkbrs387907262
gwascentralrs387907262
openSNPrs387907262
23andMers387907262
SNPshotrs387907262
SNPdbers387907262
MSV3drs387907262
GWAS Ctlgrs387907262
Max Magnitude0
ClinVar
Risk rs387907262(T;T)
Alt rs387907262(T;T)
Reference Rs387907262(G;G)
Significance Pathogenic
Disease Epilepsy
Variation info
Gene KCTD7
CLNDBN Epilepsy, progressive myoclonic 3
Reversed 0
HGVS NC_000007.13:g.66103268G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000030689.5,